A rare cause of high anion gap metabolic acidosis

Milošević, Slađana; Tran, Khoa D.; O’Brien, Barbara C.

doi:10.1111/imj.12016

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2013

2024

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Cited by 9 publications

(4 citation statements)

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“…Blood amino acid levels were measured in only two of the 100 cases (case 37 28 and case 56 29 ). These are listed in Table 2 .…”

Section: Discussion Of Clinical Features Prescribed Drugs and Backgro...mentioning

confidence: 99%

See 1 more Smart Citation

Pyroglutamate acidosis 2023. A review of 100 cases

Stewart

2024

Clinical Medicine

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“…Blood amino acid levels were measured in only two of the 100 cases (case 37 28 and case 56 29 ). These are listed in Table 2 .…”

Section: Discussion Of Clinical Features Prescribed Drugs and Backgro...mentioning

confidence: 99%

“… 1 Ammonia (µmol/L, normal, <50) 24 (N), 26 (48), 49 (445), 58 (53), 66 (N), 78 (95 (169), 96 (113, 661) High in 3 cases Amino acids measured Bowron (37) , 28 Milosevic (57). 29 2 Overdose context 9, 48, 53, 82. 4 Malignant disease 24, 25, 54, 62, 82, 90.…”

Section: Clinical Picturesmentioning

confidence: 99%

Pyroglutamate acidosis 2023. A review of 100 cases

Stewart

2024

Clinical Medicine

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“…Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis has been reported in an adult receiving antibiotic therapy ( 12 ). 5-oxoprolinuria can also be caused by acetaminophen overuse, vigabatrin or flucloxacillin ( 13 – 15 ). However, the levels of pyroglutamate are much less marked in these conditions than in the inherited disorders ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

“…5-oxoprolinuria can also be caused by acetaminophen overuse, vigabatrin or flucloxacillin ( 13 – 15 ). However, the levels of pyroglutamate are much less marked in these conditions than in the inherited disorders ( 15 ). The present case had severe metabolic acidosis with a high anionic gap, severe hemolytic anemia, hyperbilirubinemia, and high levels of 5-oxoprolinuria.…”

Section: Discussionmentioning

confidence: 99%

A case of severe glutathione synthetase deficiency with novel GSS mutations

Xia

Wang

et al. 2018

Braz J Med Biol Res

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Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD included supplementation with antioxidants and oral sodium hydrogen bicarbonate. However, he maintained a variable degree of metabolic acidosis and succumbed shortly after his parents requested discontinuation of therapy because of dismal prognosis and medical futility when he was 18 days old.

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2013

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A rare cause of high anion gap metabolic acidosis

Cited by 9 publications

References 6 publications

Pyroglutamate acidosis 2023. A review of 100 cases

Pyroglutamate acidosis 2023. A review of 100 cases

A case of severe glutathione synthetase deficiency with novel GSS mutations

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